Zobrazeno 1 - 10
of 111
pro vyhledávání: '"Anne M Comi"'
Autor:
Bernard Cohen, Yangming Ou, Pooja Vedmurthy, Anna L R Pinto, Doris D M Lin, Anne M Comi, Mustafa Sahin, P. Ellen Grant, Katrina Boyer, Masanori Takeoka, Joshua Ewen, Eric Kossoff, Teressa Garcia Reidy, Stacy Suskauer, Andrew Zabel
Publikováno v:
BMJ Open, Vol 12, Iss 2 (2022)
Externí odkaz:
https://doaj.org/article/c28ac7a9ca4142c9a67af1341d4885ed
Autor:
Chelsea B. Valery, Isabelle Iannotti, Eric H. Kossoff, Andrew Zabel, Bernard Cohen, Yangming Ou, Anna Pinto, Anne M. Comi
Publikováno v:
Annals of the Child Neurology Society, Vol 2, Iss 1, Pp 60-72 (2024)
Abstract Background Ninety percent of infants with Sturge–Weber syndrome (SWS) brain involvement have seizure onset before 2 years of age; early‐onset seizures are associated with worse neurological outcome. Presymptomatic treatment before seizur
Externí odkaz:
https://doaj.org/article/e29241007ae34cb398fbead4c5ec2335
Autor:
Chelsea B. Valery, Anne M. Comi
Publikováno v:
Annals of the Child Neurology Society, Vol 1, Iss 3, Pp 186-201 (2023)
Abstract Objectives We summarize the current knowledge of Sturge–Weber syndrome (SWS) including genetic involvement, difficulties in diagnosis, symptoms caused by the vascular malformations, treatments, and future areas of research. Methods PubMed
Externí odkaz:
https://doaj.org/article/a3fbfc5beb2c4f40a2f12e12b3c33a9f
Autor:
Pooja Vedmurthy, Connor Murray, Belinda Chen, Akua Asiedu, Kristin Baranano, Mihee Bay, Harolyn Belcher, Vera Burton, Charles Conlon, Amena Fine, Ryan Gill, Jacqueline Harris, Khaylynn Hart, Shannon Inches, Jennifer Johnson, Eboni Lance, Paul H. Lipkin, Deepa U. Menon, Tiffany McIntyre, Meghna Rajaprakash, Albert Recio, Harvey S. Singer, Lindsay Smegal, Constance L. Smith-Hicks, Hilary Vernon, Anna Maria Wilms Floet, Joyce Wong, Karina Yelin, Mary L. O’Connor Leppert, T. Andrew Zabel, Anne M. Comi
Publikováno v:
Frontiers in Rehabilitation Sciences, Vol 3 (2022)
BackgroundThe COVID-19 pandemic uniquely affects patients with neurologic and developmental disabilities at the Kennedy Krieger Institute. These patients are at increased risk of co-morbidities, increasing their risk of contracting COVID-19. Disrupti
Externí odkaz:
https://doaj.org/article/def6c26024944610819643db055fa846
Cannabidiol Treatment for Neurological, Cognitive, and Psychiatric Symptoms in Sturge-Weber Syndrome
Autor:
Lindsay F. Smegal, Pooja Vedmurthy, Matthew Ryan, Melissa Eagen, Nicole Whiston Andrejow, Kristie Sweeney, Teressa Garcia Reidy, SangEun Yeom, Doris D. Lin, Stacy J. Suskauer, Luther G. Kalb, Jay A. Salpekar, T. Andrew Zabel, Anne M. Comi
Publikováno v:
Pediatric Neurology. 139:24-34
A prior drug trial of cannabidiol for treatment-resistant epilepsy in patients with Sturge-Weber syndrome (SWS), a rare neurovascular condition, implicated improvements in neurological, quality of life (QOL), neuropsychologic, psychiatric, and motor
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8d4cb1c664cdd91620307cf23ca10db5
https://doi.org/10.1016/j.pediatrneurol.2022.10.014
https://doi.org/10.1016/j.pediatrneurol.2022.10.014
Autor:
SangEun Yeom, Anne M. Comi
Publikováno v:
Stroke. 53:3769-3779
Sturge-Weber syndrome (SWS) is a rare, noninherited neurovascular disorder characterized by abnormal vasculature in the brain, skin, and eye. Patients with SWS characteristically have facial capillary malformation, also known as port-wine birthmark,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f32303e578a97d5f3cb77d84271e22b5
https://doi.org/10.1161/strokeaha.122.038585
https://doi.org/10.1161/strokeaha.122.038585
Autor:
Robert J. Flamini, Anne M. Comi, E. Martina Bebin, Michael G. Chez, Gary Clark, Orrin Devinsky, Shaun A. Hussain, Paul D. Lyons, Anup D. Patel, Jillian L. Rosengard, Farhad Sahebkar, Eric Segal, Laurie Seltzer, Jerzy P. Szaflarski, Arie Weinstock
Publikováno v:
Epilepsia.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f66f38786271b6e144c6ecd70cfba62b
https://doi.org/10.1111/epi.17665
https://doi.org/10.1111/epi.17665
Autor:
Danielle McAuliffe, Bohao Tang, Lindsay F. Smegal, Brian Caffo, Siddharth Srivastava, Jack H. Adamek, Doris D. M. Lin, Alison J. Sebold, Balaji M. Lakshmanan, Joshua B. Ewen, Anne M. Comi, Angela M. Quain, Eric H. Kossoff, Ryan Elizabeth Gill
Publikováno v:
Clin Neurophysiol
Objective Port-wine birthmark (PWB) is a common occurrence in the newborn, and general pediatricians, dermatologists, and ophthalmologists are often called on to make an assessment of risk for Sturge-Weber syndrome (SWS) due to workforce shortages in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5f778ed60f805eea86a46cd9765cc50d
https://doi.org/10.1016/j.clinph.2021.06.030
https://doi.org/10.1016/j.clinph.2021.06.030
Autor:
Ying Sheng, Yuri Uchiyama, Clara Hammarström, Ane-Marte Øye, Jan Cezary Sitek, Paul Hoff Backe, Hanne Sagsveen Hjorthaug, Anne M. Comi, Kaja Kristine Selmer, Olav Sundnes, Jonathan Pevsner, Magnus Dehli Vigeland, Roar Fjær, Katarzyna Marciniak, Naomichi Matsumoto, Guttorm Haraldsen, Johanna Hol Fosse, Tor Espen Stav-Noraas
Publikováno v:
Human Molecular Genetics
Sturge–Weber syndrome (SWS) is a neurocutaneous disorder characterized by vascular malformations affecting skin, eyes and leptomeninges of the brain, which can lead to glaucoma, seizures and intellectual disability. The discovery of a disease-causi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5d7c61c5297f73b08fd675f71ce76088
https://doi.org/10.1093/hmg/ddab144
https://doi.org/10.1093/hmg/ddab144
Autor:
Alison J. Sebold, Jacqueline W. Sievers, Bernard A. Cohen, Joshua B. Ewen, Anna W. Byars, Stacy J. Suskauer, Lindsay F. Smegal, T. Andrew Zabel, Tomoyuki Mizuno, Anne M. Comi, Matthew Ryan, Adrienne M. Hammill, Alyssa M. Day, Alexander A. Vinks, Cameron Thomas, Jack H. Adamek, Eric H. Kossoff
Publikováno v:
Pediatr Neurol
Background Sturge-Weber syndrome is a rare neurovascular disorder associated with capillary malformation, seizures, cognitive impairments, and stroke-like episodes (SLEs), arising from a somatic activating mutation in GNAQ. Studies suggest this mutat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dee4b609af986f87c1ad52fb9f09d7b7
https://doi.org/10.1016/j.pediatrneurol.2020.10.013
https://doi.org/10.1016/j.pediatrneurol.2020.10.013